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Symptoms and Signs – Differential Diagnosis of Polycythemia Vera
• Stress polycythemia (Gaisböck’s syndrome, relative polycythemia): laboratory evaluation demonstrates normal RBC mass, arterial oxygen saturation, and erythropoietin level; plasma volume is decreased. Splenomegaly is not present on physical examination.
• Smoking: polycythemia is secondary to increased carboxyhemoglobin, resulting in left shift in the Hgb dissociation curve. Laboratory evaluation shows increased hematocrit (Hct), red blood cell (RBC) mass, erythropoietin level, and carboxyhemoglobin. Splenomegaly is not present on physical examination.
• Hypoxemia (secondary polycythemia): living for prolonged periods at high altitudes, pulmonary fibrosis, congenital cardiac lesions with right-to-left shunts. Laboratory evaluation shows decreased arterial oxygen saturation and elevated erythropoietin level. Splenomegaly is not present on physical examination.
• Hemoglobinopathies associated with high oxygen affinity: an abnormal oxyhemoglobin dissociation curve (P50) is present.
• Erythropoietin-producing disorders: renal cell carcinoma, hepatoma, cerebral hemangioma, uterine fibroids, polycystic kidneys. The erythropoietin level is elevated in these patients; the arterial oxygen saturation is normal. Splenomegaly may be present with metastatic neoplasms.
• Stress polycythemia (Gaisböck’s syndrome, relative polycythemia): laboratory evaluation demonstrates normal RBC mass, arterial oxygen saturation, and erythropoietin level; plasma volume is decreased. Splenomegaly is not present on physical examination.
• Smoking: polycythemia is secondary to increased carboxyhemoglobin, resulting in left shift in the Hgb dissociation curve. Laboratory evaluation shows increased hematocrit (Hct), red blood cell (RBC) mass, erythropoietin level, and carboxyhemoglobin. Splenomegaly is not present on physical examination.
• Hypoxemia (secondary polycythemia): living for prolonged periods at high altitudes, pulmonary fibrosis, congenital cardiac lesions with right-to-left shunts. Laboratory evaluation shows decreased arterial oxygen saturation and elevated erythropoietin level. Splenomegaly is not present on physical examination.
• Hemoglobinopathies associated with high oxygen affinity: an abnormal oxyhemoglobin dissociation curve (P50) is present.
• Erythropoietin-producing disorders: renal cell carcinoma, hepatoma, cerebral hemangioma, uterine fibroids, polycystic kidneys. The erythropoietin level is elevated in these patients; the arterial oxygen saturation is normal. Splenomegaly may be present with metastatic neoplasms.
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